This document discusses renal tubular acidosis (RTA). It defines RTA as a metabolic acidosis with a normal anion gap due to bicarbonate loss in the setting of normal kidney function. It describes the different types of RTA, including proximal (type II) RTA which is caused by impaired bicarbonate reabsorption in the proximal convoluted tubule. Cystinosis, an inherited disorder, is mentioned as a common cause of proximal RTA. Clinical features, diagnosis, and management of proximal RTA and cystinosis are covered.
This document provides information on renal tubular physiology and various renal tubulopathies. It discusses the functions of the proximal tubule, loop of Henle, distal tubule, and collecting duct. Specific tubulopathies summarized include cystinuria, X-linked hypophosphatemic rickets, proximal renal tubular acidosis, Fanconi syndrome, cystinosis, Bartter syndrome, pseudo-Bartter syndrome, and Gitelman syndrome. The summaries focus on the underlying defects, characteristic clinical features, biochemical abnormalities, and treatments for each condition.
Bartter syndrome is a rare inherited renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia. It results from mutations impairing chloride reabsorption in the thick ascending limb of Henle's loop, causing excessive urinary losses of sodium, chloride, and potassium. There are 5 types of Bartter syndrome distinguished by their genetic defects and associated symptoms. Neonatal forms present with polyhydramnios, polyuria, and volume depletion. Classic Bartter syndrome presents in childhood with similar symptoms and growth issues. Gitelman syndrome, caused by a related defect, presents mildly in adolescence.
1) This case presentation discusses a 5-month-old child who presented with failure to thrive and was found to have electrolyte imbalance including hypokalemia, hyponatremia, and hypochloremia.
2) The child was diagnosed with metabolic alkalosis and further workup found high plasma renin activity, suggestive of Bartter syndrome.
3) Bartter syndrome is characterized by hypokalemic metabolic alkalosis with hypercalciuria and salt wasting due to a defect in sodium, chloride, and potassium transport in the kidney. The presentation, causes, and treatment of Bartter syndrome are discussed in detail in this case study.
The document provides information on evaluating and diagnosing short stature in children. It defines short stature as height more than 2 standard deviations below the median for age and gender. It discusses evaluating growth velocity and proportions, considering causes like familial, constitutional, medical conditions affecting the GH-IGF axis, malnutrition, chronic illness, genetic syndromes, and psychosocial factors. The diagnosis involves a detailed history, physical exam including measurements, and laboratory tests to identify potential causes.
This document summarizes a conference on renal tubular acidosis (RTA). It describes the physiology of renal acidification involving bicarbonate reabsorption in the proximal tubule and hydrogen ion secretion in the collecting duct. It outlines the main types of RTA including proximal and distal RTA, and discusses their characteristic laboratory findings and treatments involving sodium bicarbonate or citrate supplementation.
This document discusses renal tubular acidosis (RTA), a group of disorders characterized by hyperchloremic metabolic acidosis and tubular dysfunction. It describes the different types of RTA, including distal RTA (type I), proximal RTA (type II), and type IV RTA. Distal RTA is caused by a failure of the distal tubules to secrete dietary acid, leading to an inability to maximally acidify urine or generate new bicarbonate. Proximal RTA results from decreased proximal tubular resorption of bicarbonate. Type IV RTA involves defects in distal tubular secretion of hydrogen ions and potassium, causing hyperchloremic metabolic acidosis and hyperkal
Renal tubular acidosis (RTA) occurs when the kidneys do not properly remove acid from the blood into urine, leading to high acid levels in the blood. There are different types depending on which part of the kidney tubule is affected. RTA can be caused by genetic defects or other conditions and results in bone diseases, kidney stones, and growth problems if not treated. Diagnosis involves blood and urine tests showing high acid and low bicarbonate levels. Treatment aims to lower acid levels and prevent complications through alkaline supplements, potassium if needed, and addressing any underlying disorders. With proper long-term management, prognosis is generally good though late diagnosis can lead to permanent bone deformities.
This document discusses renal tubular acidosis (RTA). It defines RTA as a metabolic acidosis with a normal anion gap due to bicarbonate loss in the setting of normal kidney function. It describes the different types of RTA, including proximal (type II) RTA which is caused by impaired bicarbonate reabsorption in the proximal convoluted tubule. Cystinosis, an inherited disorder, is mentioned as a common cause of proximal RTA. Clinical features, diagnosis, and management of proximal RTA and cystinosis are covered.
This document provides information on renal tubular physiology and various renal tubulopathies. It discusses the functions of the proximal tubule, loop of Henle, distal tubule, and collecting duct. Specific tubulopathies summarized include cystinuria, X-linked hypophosphatemic rickets, proximal renal tubular acidosis, Fanconi syndrome, cystinosis, Bartter syndrome, pseudo-Bartter syndrome, and Gitelman syndrome. The summaries focus on the underlying defects, characteristic clinical features, biochemical abnormalities, and treatments for each condition.
Bartter syndrome is a rare inherited renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia. It results from mutations impairing chloride reabsorption in the thick ascending limb of Henle's loop, causing excessive urinary losses of sodium, chloride, and potassium. There are 5 types of Bartter syndrome distinguished by their genetic defects and associated symptoms. Neonatal forms present with polyhydramnios, polyuria, and volume depletion. Classic Bartter syndrome presents in childhood with similar symptoms and growth issues. Gitelman syndrome, caused by a related defect, presents mildly in adolescence.
1) This case presentation discusses a 5-month-old child who presented with failure to thrive and was found to have electrolyte imbalance including hypokalemia, hyponatremia, and hypochloremia.
2) The child was diagnosed with metabolic alkalosis and further workup found high plasma renin activity, suggestive of Bartter syndrome.
3) Bartter syndrome is characterized by hypokalemic metabolic alkalosis with hypercalciuria and salt wasting due to a defect in sodium, chloride, and potassium transport in the kidney. The presentation, causes, and treatment of Bartter syndrome are discussed in detail in this case study.
The document provides information on evaluating and diagnosing short stature in children. It defines short stature as height more than 2 standard deviations below the median for age and gender. It discusses evaluating growth velocity and proportions, considering causes like familial, constitutional, medical conditions affecting the GH-IGF axis, malnutrition, chronic illness, genetic syndromes, and psychosocial factors. The diagnosis involves a detailed history, physical exam including measurements, and laboratory tests to identify potential causes.
This document summarizes a conference on renal tubular acidosis (RTA). It describes the physiology of renal acidification involving bicarbonate reabsorption in the proximal tubule and hydrogen ion secretion in the collecting duct. It outlines the main types of RTA including proximal and distal RTA, and discusses their characteristic laboratory findings and treatments involving sodium bicarbonate or citrate supplementation.
This document discusses renal tubular acidosis (RTA), a group of disorders characterized by hyperchloremic metabolic acidosis and tubular dysfunction. It describes the different types of RTA, including distal RTA (type I), proximal RTA (type II), and type IV RTA. Distal RTA is caused by a failure of the distal tubules to secrete dietary acid, leading to an inability to maximally acidify urine or generate new bicarbonate. Proximal RTA results from decreased proximal tubular resorption of bicarbonate. Type IV RTA involves defects in distal tubular secretion of hydrogen ions and potassium, causing hyperchloremic metabolic acidosis and hyperkal
Renal tubular acidosis (RTA) occurs when the kidneys do not properly remove acid from the blood into urine, leading to high acid levels in the blood. There are different types depending on which part of the kidney tubule is affected. RTA can be caused by genetic defects or other conditions and results in bone diseases, kidney stones, and growth problems if not treated. Diagnosis involves blood and urine tests showing high acid and low bicarbonate levels. Treatment aims to lower acid levels and prevent complications through alkaline supplements, potassium if needed, and addressing any underlying disorders. With proper long-term management, prognosis is generally good though late diagnosis can lead to permanent bone deformities.
Acute renal failure is a clinical syndrome where sudden deterioration of renal function results in the kidneys' inability to maintain fluid and electrolyte homeostasis. It has various etiologies like pre-renal, intrinsic renal, and post-renal factors. Management involves treating the underlying cause, fluid resuscitation, controlling electrolyte abnormalities, and starting dialysis for refractory volume overload, hyperkalemia, acidosis, or neurological symptoms. The healthcare team works to stabilize the patient and prevent long-term kidney damage.
This document summarizes renal tubular acidosis (RTA), a condition caused by defects in the kidney's ability to reabsorb bicarbonate or excrete hydrogen ions. It describes the different types of RTA - proximal RTA caused by impaired bicarbonate reabsorption in the proximal tubule, distal RTA caused by impaired acidification in the distal tubule, and rare combined proximal and distal RTA. The clinical features and causes of each type are discussed. Inherited forms are linked to mutations in genes encoding acid-base transporters. Acquired forms can result from conditions like autoimmune diseases.
Acute kidney injury (AKI), formerly known as acute renal failure, is defined as a sudden deterioration of kidney function resulting in the inability to maintain fluid and electrolyte homeostasis. It can be caused by prerenal issues affecting blood flow to the kidneys, intrinsic renal parenchymal damage, or postrenal urinary tract obstruction. The incidence of AKI varies globally and it commonly occurs in critically ill children with coexisting conditions. Etiologies include pre-renal causes like decreased intravascular volume, intrinsic renal diseases affecting glomeruli or tubules, and post-renal obstruction. Diagnosis involves lab tests of kidney and liver function as well as imaging studies. Treatment focuses on fluid management, electrolyte
This document discusses chronic diarrhea, defining it as diarrhea lasting more than 2 weeks. It outlines different types of diarrhea based on duration, including acute (<2 weeks), prolonged (7-14 days), and persistent (>14 weeks). The causes of chronic diarrhea are discussed for different age groups, including post-gastrointestinal infections, cow's milk protein intolerance, and celiac disease in infants. Pathophysiological causes of chronic diarrhea include secretory, osmotic, steatorrheal, inflammatory, and dysmotility mechanisms. The importance of a thorough history and physical exam is emphasized to guide diagnostic testing and treatment approaches, which may be curative, suppressive, or empirical depending on the underlying cause.
Pediatric Acute Liver Failure (PALF) is defined as evidence of liver dysfunction within 8 weeks of symptoms onset in children, with uncorrectable coagulopathy and no evidence of chronic liver disease. Common etiologies include viral hepatitis, drugs, and other metabolic causes. Diagnostic workup involves general and etiology-specific tests. Key parameters to monitor include encephalopathy grade, coagulopathy, electrolytes, and complications. Treatment focuses on supportive care, complication management, and liver transplantation if indicated based on severity scores. Prognosis depends on etiology and degree of encephalopathy.
Renal tubular acidosis (RTA) refers to disorders affecting the renal tubules' ability to secrete hydrogen ions or retain bicarbonate ions, producing hyperchloremic metabolic acidosis with a normal anion gap. There are four main types: proximal RTA is caused by impaired proximal tubule bicarbonate reabsorption; distal RTA results from a distal acidification defect; RTA type IV involves hypoaldosteronism or aldosterone resistance; features and treatment responses vary between the types.
- Proteinuria refers to abnormal levels of protein in the urine and can be caused by damage to the glomerular filtration barrier in the kidneys. The glomerular filtration barrier is normally highly selective and prevents protein leakage into the urine.
- Proteinuria is classified as transient, orthostatic, asymptomatic, symptomatic, isolated or associated with other symptoms. Measurement involves urine dipstick testing, 24-hour urine protein estimation, or urine protein-creatinine ratio.
- Evaluation of proteinuria includes assessing for signs and symptoms, measuring extent of proteinuria, and considering underlying causes like glomerular disease, tubular dysfunction, or overflow proteinuria from other medical conditions. Treatment is directed at the underlying cause
metabolic acidosis develops because of defects in the ability of the renal tubules to perform the normal functions required to maintain acid-base balance.
This document discusses renal tubular acidosis (RTA). It describes the different types of RTA (proximal, distal, and hyperkalemic) and explains their pathophysiology. For each type it covers the mechanisms of impaired acidification, clinical manifestations like acidosis and electrolyte abnormalities, and treatments involving bicarbonate replacement. Key points are that proximal RTA involves impaired bicarbonate reabsorption, distal RTA impaired hydrogen ion secretion, and hyperkalemic RTA impaired aldosterone effects. Diagnosis involves assessing the nature of the metabolic acidosis through blood and urine tests.
1. The document provides guidance on evaluating and diagnosing anemia in children. It outlines key signs, symptoms, and pointers that suggest a child may have anemia.
2. Laboratory tests that can help determine the severity and type of anemia include complete blood count, hematocrit, reticulocyte count, blood indices, and peripheral smear.
3. A thorough history, physical exam, and lab work are needed to assess if a child is anemic, determine the severity, and identify the potential cause and type, such as blood loss, decreased red blood cell production, or increased red blood cell destruction.
This document discusses neonatal cholestasis, defined as conjugated hyperbilirubinemia developing within the first 90 days of life. It outlines the differential diagnosis and evaluation of neonatal cholestasis, distinguishing between extrahepatic and intrahepatic etiologies. Key tests and management strategies are described for different conditions, including nutritional support, treatment of symptoms, and surgical or transplant options for certain etiologies like biliary atresia.
1. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of auto-antibodies against components of the cell nucleus.
2. SLE affects multiple organ systems and is more common in females, with a female to male ratio of 9:1 before puberty.
3. Diagnosis of SLE requires meeting 4 out of 11 American College of Rheumatology diagnostic criteria, including at least 1 clinical and 1 immunological criterion. Common clinical manifestations include malar rash, arthritis, renal disease, and hematological abnormalities.
This document discusses the approach to hypoglycemia in childhood. It begins by defining hypoglycemia and describing the importance of glucose for brain development. It then discusses the pathophysiology of hypoglycemia, focusing on how the body maintains blood glucose levels through glycogenolysis, gluconeogenesis, and lipolysis. The clinical features of hypoglycemia are presented, distinguishing between sympathetic overactivity and neuroglycopenic symptoms. Common etiologies like hyperinsulinism, metabolic disorders, and systemic illnesses are outlined. The document concludes with recommendations for investigating hypoglycemia, managing acute episodes, and treating underlying causes to prevent long-term neurological consequences.
Renal tubular acidosis (RTA) is a disease characterized by a normal anion gap metabolic acidosis caused by impaired acid excretion in the kidney tubules. There are four main types: distal (type I) RTA which involves impaired hydrogen ion secretion; proximal (type II) RTA which involves impaired bicarbonate reabsorption; combined proximal and distal (type III) RTA; and hyperkalemic (type IV) RTA caused by impaired aldosterone production or responsiveness. Treatment involves bicarbonate replacement and monitoring for complications like nephrocalcinosis, nephrolithiasis, and bone disease depending on the type of RTA.
This document discusses renal tubular acidosis (RTA), which is caused by defects in the kidney's ability to absorb bicarbonate or excrete acid. There are four main types of RTA - distal (Type 1), proximal (Type 2), mixed (Type 3), and hypoaldosteronism (Type 4). Type 1 is caused by impaired distal acid secretion and presents with metabolic acidosis and high urine pH. Type 2 is caused by reduced proximal bicarbonate reabsorption and can present as isolated proximal RTA or Fanconi syndrome. Mixed Type 3 has features of both Types 1 and 2. Type 4 is caused by aldosterone deficiency or resistance and presents with hyperkalemia and mild acid
Approach to child with metabolic acidosis9845264652
This document discusses the approach to metabolic acidosis. It defines metabolic acidosis and provides normal values for arterial blood gases. Causes of metabolic acidosis include loss of bicarbonate from the body, impaired kidney function, and addition of acids. The body responds by respiratory compensation through hyperventilation and renal compensation by increasing bicarbonate reabsorption. Diagnosis involves measuring low pH and bicarbonate levels. Treatment focuses on addressing the underlying cause, while bicarbonate therapy is controversial and its risks must be weighed.
The document summarizes Bartter's and Gitelman's syndromes, which are inherited tubular defects characterized by low potassium levels and metabolic alkalosis. Bartter's syndrome involves defects in sodium reabsorption in the thick ascending limb of the loop of Henle, while Gitelman's syndrome involves a primary defect in the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubule. Both conditions result in activation of the renin-angiotensin-aldosterone system and loss of potassium and hydrogen ions in the urine. Gitelman's syndrome generally presents later in life and has a more mild phenotype. Treatment aims to block prostaglandin E2 and al
Hypocalcemia is defined as a serum calcium level below 8 mg/dl or ionized calcium below 4 mg/dl. It can be caused by neonatal, parathyroid, or vitamin D issues as well as certain drugs. Symptoms include neuromuscular problems like tetany and spasms, neurological issues such as seizures and irritability, and cardiovascular abnormalities like a prolonged QT interval. Treatment involves intravenous calcium gluconate or calcium chloride for emergencies or tetany, as well as oral calcium supplements and vitamin D for long-term management.
This document provides an overview of renal tubular acidosis (RTA). It defines RTA as a condition where the kidneys are unable to appropriately acidify the urine, resulting in acid accumulation in the body. There are four main types of RTA - type 1 involves a defect in the distal tubule, type 2 involves a defect in the proximal tubule, type 3 is a combined defect, and type 4 involves hyperkalemia. The document outlines the pathophysiology, clinical features, diagnostic testing and management considerations for each type of RTA.
This document summarizes renal tubular acidosis (RTA), including the different types (proximal, distal, and hyperkalemic), causes, pathogenesis, clinical manifestations, diagnosis, and treatment. There are four main types of RTA - proximal (Type II) involving impaired bicarbonate reabsorption in the proximal tubule, distal (Type I) due to impaired hydrogen ion secretion in the distal tubule, and hyperkalemic (Type IV) resulting from impaired aldosterone production or response leading to impaired potassium and hydrogen ion handling. The document outlines the characteristic features, underlying causes, and approaches to diagnosis and management of metabolic acidosis for each RTA type.
Acute renal failure is a clinical syndrome where sudden deterioration of renal function results in the kidneys' inability to maintain fluid and electrolyte homeostasis. It has various etiologies like pre-renal, intrinsic renal, and post-renal factors. Management involves treating the underlying cause, fluid resuscitation, controlling electrolyte abnormalities, and starting dialysis for refractory volume overload, hyperkalemia, acidosis, or neurological symptoms. The healthcare team works to stabilize the patient and prevent long-term kidney damage.
This document summarizes renal tubular acidosis (RTA), a condition caused by defects in the kidney's ability to reabsorb bicarbonate or excrete hydrogen ions. It describes the different types of RTA - proximal RTA caused by impaired bicarbonate reabsorption in the proximal tubule, distal RTA caused by impaired acidification in the distal tubule, and rare combined proximal and distal RTA. The clinical features and causes of each type are discussed. Inherited forms are linked to mutations in genes encoding acid-base transporters. Acquired forms can result from conditions like autoimmune diseases.
Acute kidney injury (AKI), formerly known as acute renal failure, is defined as a sudden deterioration of kidney function resulting in the inability to maintain fluid and electrolyte homeostasis. It can be caused by prerenal issues affecting blood flow to the kidneys, intrinsic renal parenchymal damage, or postrenal urinary tract obstruction. The incidence of AKI varies globally and it commonly occurs in critically ill children with coexisting conditions. Etiologies include pre-renal causes like decreased intravascular volume, intrinsic renal diseases affecting glomeruli or tubules, and post-renal obstruction. Diagnosis involves lab tests of kidney and liver function as well as imaging studies. Treatment focuses on fluid management, electrolyte
This document discusses chronic diarrhea, defining it as diarrhea lasting more than 2 weeks. It outlines different types of diarrhea based on duration, including acute (<2 weeks), prolonged (7-14 days), and persistent (>14 weeks). The causes of chronic diarrhea are discussed for different age groups, including post-gastrointestinal infections, cow's milk protein intolerance, and celiac disease in infants. Pathophysiological causes of chronic diarrhea include secretory, osmotic, steatorrheal, inflammatory, and dysmotility mechanisms. The importance of a thorough history and physical exam is emphasized to guide diagnostic testing and treatment approaches, which may be curative, suppressive, or empirical depending on the underlying cause.
Pediatric Acute Liver Failure (PALF) is defined as evidence of liver dysfunction within 8 weeks of symptoms onset in children, with uncorrectable coagulopathy and no evidence of chronic liver disease. Common etiologies include viral hepatitis, drugs, and other metabolic causes. Diagnostic workup involves general and etiology-specific tests. Key parameters to monitor include encephalopathy grade, coagulopathy, electrolytes, and complications. Treatment focuses on supportive care, complication management, and liver transplantation if indicated based on severity scores. Prognosis depends on etiology and degree of encephalopathy.
Renal tubular acidosis (RTA) refers to disorders affecting the renal tubules' ability to secrete hydrogen ions or retain bicarbonate ions, producing hyperchloremic metabolic acidosis with a normal anion gap. There are four main types: proximal RTA is caused by impaired proximal tubule bicarbonate reabsorption; distal RTA results from a distal acidification defect; RTA type IV involves hypoaldosteronism or aldosterone resistance; features and treatment responses vary between the types.
- Proteinuria refers to abnormal levels of protein in the urine and can be caused by damage to the glomerular filtration barrier in the kidneys. The glomerular filtration barrier is normally highly selective and prevents protein leakage into the urine.
- Proteinuria is classified as transient, orthostatic, asymptomatic, symptomatic, isolated or associated with other symptoms. Measurement involves urine dipstick testing, 24-hour urine protein estimation, or urine protein-creatinine ratio.
- Evaluation of proteinuria includes assessing for signs and symptoms, measuring extent of proteinuria, and considering underlying causes like glomerular disease, tubular dysfunction, or overflow proteinuria from other medical conditions. Treatment is directed at the underlying cause
metabolic acidosis develops because of defects in the ability of the renal tubules to perform the normal functions required to maintain acid-base balance.
This document discusses renal tubular acidosis (RTA). It describes the different types of RTA (proximal, distal, and hyperkalemic) and explains their pathophysiology. For each type it covers the mechanisms of impaired acidification, clinical manifestations like acidosis and electrolyte abnormalities, and treatments involving bicarbonate replacement. Key points are that proximal RTA involves impaired bicarbonate reabsorption, distal RTA impaired hydrogen ion secretion, and hyperkalemic RTA impaired aldosterone effects. Diagnosis involves assessing the nature of the metabolic acidosis through blood and urine tests.
1. The document provides guidance on evaluating and diagnosing anemia in children. It outlines key signs, symptoms, and pointers that suggest a child may have anemia.
2. Laboratory tests that can help determine the severity and type of anemia include complete blood count, hematocrit, reticulocyte count, blood indices, and peripheral smear.
3. A thorough history, physical exam, and lab work are needed to assess if a child is anemic, determine the severity, and identify the potential cause and type, such as blood loss, decreased red blood cell production, or increased red blood cell destruction.
This document discusses neonatal cholestasis, defined as conjugated hyperbilirubinemia developing within the first 90 days of life. It outlines the differential diagnosis and evaluation of neonatal cholestasis, distinguishing between extrahepatic and intrahepatic etiologies. Key tests and management strategies are described for different conditions, including nutritional support, treatment of symptoms, and surgical or transplant options for certain etiologies like biliary atresia.
1. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of auto-antibodies against components of the cell nucleus.
2. SLE affects multiple organ systems and is more common in females, with a female to male ratio of 9:1 before puberty.
3. Diagnosis of SLE requires meeting 4 out of 11 American College of Rheumatology diagnostic criteria, including at least 1 clinical and 1 immunological criterion. Common clinical manifestations include malar rash, arthritis, renal disease, and hematological abnormalities.
This document discusses the approach to hypoglycemia in childhood. It begins by defining hypoglycemia and describing the importance of glucose for brain development. It then discusses the pathophysiology of hypoglycemia, focusing on how the body maintains blood glucose levels through glycogenolysis, gluconeogenesis, and lipolysis. The clinical features of hypoglycemia are presented, distinguishing between sympathetic overactivity and neuroglycopenic symptoms. Common etiologies like hyperinsulinism, metabolic disorders, and systemic illnesses are outlined. The document concludes with recommendations for investigating hypoglycemia, managing acute episodes, and treating underlying causes to prevent long-term neurological consequences.
Renal tubular acidosis (RTA) is a disease characterized by a normal anion gap metabolic acidosis caused by impaired acid excretion in the kidney tubules. There are four main types: distal (type I) RTA which involves impaired hydrogen ion secretion; proximal (type II) RTA which involves impaired bicarbonate reabsorption; combined proximal and distal (type III) RTA; and hyperkalemic (type IV) RTA caused by impaired aldosterone production or responsiveness. Treatment involves bicarbonate replacement and monitoring for complications like nephrocalcinosis, nephrolithiasis, and bone disease depending on the type of RTA.
This document discusses renal tubular acidosis (RTA), which is caused by defects in the kidney's ability to absorb bicarbonate or excrete acid. There are four main types of RTA - distal (Type 1), proximal (Type 2), mixed (Type 3), and hypoaldosteronism (Type 4). Type 1 is caused by impaired distal acid secretion and presents with metabolic acidosis and high urine pH. Type 2 is caused by reduced proximal bicarbonate reabsorption and can present as isolated proximal RTA or Fanconi syndrome. Mixed Type 3 has features of both Types 1 and 2. Type 4 is caused by aldosterone deficiency or resistance and presents with hyperkalemia and mild acid
Approach to child with metabolic acidosis9845264652
This document discusses the approach to metabolic acidosis. It defines metabolic acidosis and provides normal values for arterial blood gases. Causes of metabolic acidosis include loss of bicarbonate from the body, impaired kidney function, and addition of acids. The body responds by respiratory compensation through hyperventilation and renal compensation by increasing bicarbonate reabsorption. Diagnosis involves measuring low pH and bicarbonate levels. Treatment focuses on addressing the underlying cause, while bicarbonate therapy is controversial and its risks must be weighed.
The document summarizes Bartter's and Gitelman's syndromes, which are inherited tubular defects characterized by low potassium levels and metabolic alkalosis. Bartter's syndrome involves defects in sodium reabsorption in the thick ascending limb of the loop of Henle, while Gitelman's syndrome involves a primary defect in the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubule. Both conditions result in activation of the renin-angiotensin-aldosterone system and loss of potassium and hydrogen ions in the urine. Gitelman's syndrome generally presents later in life and has a more mild phenotype. Treatment aims to block prostaglandin E2 and al
Hypocalcemia is defined as a serum calcium level below 8 mg/dl or ionized calcium below 4 mg/dl. It can be caused by neonatal, parathyroid, or vitamin D issues as well as certain drugs. Symptoms include neuromuscular problems like tetany and spasms, neurological issues such as seizures and irritability, and cardiovascular abnormalities like a prolonged QT interval. Treatment involves intravenous calcium gluconate or calcium chloride for emergencies or tetany, as well as oral calcium supplements and vitamin D for long-term management.
This document provides an overview of renal tubular acidosis (RTA). It defines RTA as a condition where the kidneys are unable to appropriately acidify the urine, resulting in acid accumulation in the body. There are four main types of RTA - type 1 involves a defect in the distal tubule, type 2 involves a defect in the proximal tubule, type 3 is a combined defect, and type 4 involves hyperkalemia. The document outlines the pathophysiology, clinical features, diagnostic testing and management considerations for each type of RTA.
This document summarizes renal tubular acidosis (RTA), including the different types (proximal, distal, and hyperkalemic), causes, pathogenesis, clinical manifestations, diagnosis, and treatment. There are four main types of RTA - proximal (Type II) involving impaired bicarbonate reabsorption in the proximal tubule, distal (Type I) due to impaired hydrogen ion secretion in the distal tubule, and hyperkalemic (Type IV) resulting from impaired aldosterone production or response leading to impaired potassium and hydrogen ion handling. The document outlines the characteristic features, underlying causes, and approaches to diagnosis and management of metabolic acidosis for each RTA type.
This patient presented with bilateral lower limb swelling and was found to have metabolic acidosis with normal anion gap and hyperkalemia. She was diagnosed with renal tubular acidosis type 4 based on these features in addition to her history of diabetes. RTA is caused by impaired acidification in the renal tubules, classified by the site of defect. Type 4 RTA involves aldosterone deficiency or resistance leading to impaired potassium excretion and suppressed ammonia excretion, causing hyperkalemic metabolic acidosis. The patient was treated with sodium bicarbonate and potassium binding resins, and her acid-base status improved on follow up.
This document discusses renal tubular acidosis (RTA). It begins by explaining the different types of RTA, including proximal (Type 1), distal (Type 2), and combined (Type 3). It then covers the clinical presentation, diagnostic evaluation, and management of RTA. Key points include that children with RTA often present with failure to thrive, polyuria, and polydipsia. Diagnosis involves assessing for a normal anion gap metabolic acidosis along with electrolyte abnormalities. Treatment focuses on bicarbonate replacement and addressing complications like hypercalciuria. With early diagnosis and treatment, most children can see improved growth and development.
1. Renal tubular acidosis (RTA) is characterized by a normal anion gap, hyperchloremic metabolic acidosis due to a failure of the kidneys to reclaim filtered bicarbonate or generate new bicarbonate.
2. RTA is classified as either proximal RTA, distal RTA, or mixed based on the site of the defect in the renal tubule. Proximal RTA results from a failure of bicarbonate reabsorption in the proximal tubule, while distal RTA stems from a defect in bicarbonate regeneration in the distal tubule and collecting duct.
3. The proximal tubule normally reclaims around 85% of the
This document discusses hereditary tubulopathies, which are characterized by impaired function of transport proteins in the kidney tubules. It begins by introducing kidney tubule homeostasis and inherited tubulopathies. It then provides a physiological classification of hereditary tubulopathies including disorders of the proximal tubule, amino acid transport, phosphate transport, urate transport, glucose transport, acid-base transporters, and more. Specific conditions are discussed in depth such as Bartter syndrome, Gitelman syndrome, renal tubular acidosis, and disorders of sodium handling. The role of salt transport and various protein defects involved in different forms of Bartter syndrome are explained. Diagnosis, clinical features, and management of Bartter syndrome are
Renal tubular acidosis (RTA) refers to a group of disorders characterized by defective renal acid-base regulation resulting in hyperchloremic metabolic acidosis despite normal or mildly reduced glomerular filtration rate. RTA is classified into three main forms: distal RTA associated with reduced urinary acid secretion, proximal RTA associated with impaired bicarbonate reabsorption, and hyperkalemic RTA associated with aldosterone deficiency or resistance. Diagnosis involves evaluating the serum anion gap, urine anion gap, urine pH, and response to acid loading tests or furosemide administration to distinguish between types and assess distal tubular acidification ability.
This document summarizes a seminar on renal tubular acidosis (RTA). It includes two case scenarios of children presenting with features of RTA like failure to thrive and metabolic acidosis. Investigation of the cases showed metabolic acidosis with normal anion gap, hypokalemia, and hyperchloremia, consistent with RTA. The seminar discusses normal acid-base homeostasis, types and causes of RTA, pathophysiology of proximal and distal RTA, and clinical features of different types of RTA. Diagnosis involves evaluation of urine pH, bicarbonate threshold, and distinguishing features of different subtypes.
This document provides an overview of acid-base disturbances, including normal values and types of metabolic and respiratory acid-base disorders. It discusses mixed acid-base disturbances and evaluating the appropriateness of the compensatory response. It describes causes and features of increased and normal anion gap metabolic acidosis, lactic acidosis, diabetic ketoacidosis, alcoholic acidosis, and uremic acidosis. It also discusses metabolic alkalosis, including saline-responsive and unresponsive types, and respiratory acidosis. Treatment approaches are outlined for different acid-base disorders.
This document provides information on renal tubular acidosis (RTA). It defines RTA as a metabolic acidosis with a normal glomerular filtration rate. It describes the different types of RTA, including distal (Type 1) RTA caused by impaired distal tubule acidification, proximal (Type 2) RTA caused by impaired proximal tubule bicarbonate reabsorption, and combined proximal and distal (Type 3) RTA. It discusses the etiology, pathophysiology, clinical manifestations, diagnosis and treatment of each RTA type. Primary causes include genetic disorders, while secondary causes include autoimmune diseases, toxins and obstructive uropathies. Clinical features include growth failure, nephro
This document provides an overview of renal tubular acidosis (RTA). It discusses the normal renal mechanisms that regulate acid-base balance and the pathophysiology of different types of RTA. The main types of RTA are distal (type 1) RTA, proximal (type 2) RTA, and type 4 RTA related to aldosterone deficiency or resistance. Distal RTA is characterized by impaired acid secretion leading to high urine pH and hypokalemia. Proximal RTA involves bicarbonate wasting and may cause bone disease. Type 4 RTA presents with hyperkalemia due to reduced ammonium excretion. Treatment involves alkali supplementation and potassium management depending on the specific RTA subtype
The document discusses various tubular diseases and the analysis of urinary calculi. It provides details on:
- The structure and function of the nephron and renal tubules.
- Major tubular diseases including Fanconi syndrome, Liddle syndrome, nephrogenic diabetes insipidus, renal tubular acidosis, and their causes, pathophysiology, evaluation, and treatment.
- The four main types of urinary calculi and methods of analysis using x-ray or infrared spectroscopy to determine the stone composition and aid in diagnosis and treatment.
The document provides an overview of kidney anatomy and function, as well as methods for investigating renal function. It discusses the nephron as the functional unit of the kidney and its role in regulating water, electrolyte and acid-base balance. Glomerular filtration rate and creatinine clearance are described as measures of glomerular function. Biomarkers of acute kidney injury like KIM-1 and NGAL are also summarized. Common causes of chronic and acute kidney disease are outlined, including diabetic nephropathy, glomerular diseases, polycystic kidney disease, renal calculi and Fanconi syndrome.
Metabolic acidosis is a condition where the blood has too much acid or too little base, resulting in a decrease in blood pH and plasma bicarbonate levels. It occurs when an acid other than carbon dioxide accumulates in the body. There are two primary types: normal anion gap metabolic acidosis and high anion gap metabolic acidosis. The body compensates for metabolic acidosis initially through respiratory hyperventilation and later through renal mechanisms such as bicarbonate retention and acid excretion. Diagnosis involves arterial blood gas analysis and identifying the underlying cause through clinical evaluation, lab tests, and anion gap calculations. Treatment focuses on correcting the underlying disorder and managing symptoms, with bicarbonate therapy reserved for
Renal tubular acidosis (RTA) refers to defects in renal reabsorption of bicarbonate or excretion of hydrogen ions. There are different types of RTA based on the site of defect - proximal RTA involves impaired proximal tubule bicarbonate reabsorption leading to metabolic acidosis, while distal RTA involves impaired distal tubule hydrogen ion secretion. Evaluation of RTA involves assessing urine pH, bicarbonate handling, and distinguishing between proximal versus distal defects. Treatment depends on the RTA type and involves oral bicarbonate and potassium supplementation.
1. Metabolic acidosis results from an increase in acids other than carbonic acid, which causes a decrease in plasma bicarbonate (HCO3-) concentration. Causes include losses of HCO3- through the GI tract or kidneys, or gains of acid through ingestion or endogenous production.
2. Metabolic alkalosis occurs when there is an increase in plasma HCO3- concentration due to a loss of hydrogen ions or gain of HCO3-. Causes include vomiting, use of diuretics, or renal failure.
3. Respiratory acidosis is defined as hypercapnia (PCO2 > 40 mm Hg) and usually results from airway impairment that causes CO
This document discusses the approach to hypokalemia, including its definition, prevalence, physiology, causes, symptoms, diagnosis, and treatment. Hypokalemia is defined as a plasma potassium level below 3.5 mEq/L and can range from mild to severe. It affects around 14% of outpatients and is more common in hospitalized patients. Potassium levels are tightly regulated and most potassium is found intracellularly. Causes of hypokalemia include low intake, redistribution into cells, and increased loss due to renal or extra-renal factors. Clinical symptoms depend on severity and may include fatigue, weakness, constipation or arrhythmias. Treatment involves replacing potassium stores orally or intravenously
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This document provides an overview of the management of hyponatremia. It begins with definitions and epidemiology, then covers the pathophysiology and classification of hyponatremia. It describes the clinical features and various causes of hyponatremia based on volume status and osmolality. The diagnosis, treatment, and risks of overly rapid correction are discussed. Key points include the importance of assessing volume status, evaluating for SIADH or other endocrine disorders, and avoiding increases in sodium levels greater than 10-12 mmol/L in a 24 hour period to prevent osmotic demyelination syndrome.
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These lecture slides, by Dr Sidra Arshad, offer a simplified look into the mechanisms involved in the regulation of respiration:
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1. Describe the organisation of respiratory center
2. Describe the nervous control of inspiration and respiratory rhythm
3. Describe the functions of the dorsal and respiratory groups of neurons
4. Describe the influences of the Pneumotaxic and Apneustic centers
5. Explain the role of Hering-Breur inflation reflex in regulation of inspiration
6. Explain the role of central chemoreceptors in regulation of respiration
7. Explain the role of peripheral chemoreceptors in regulation of respiration
8. Explain the regulation of respiration during exercise
9. Integrate the respiratory regulatory mechanisms
10. Describe the Cheyne-Stokes breathing
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1. Chapter 42, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 36, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 13, Human Physiology by Lauralee Sherwood, 9th edition
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3. RENAL TUBULAR ACIDOSIS
First described clinically in
1935
Confirmed as a renal
tubular disorder in 1946
Designated as RTA in
1951
Refers to disorders
affecting the overall
ability of the renal tubules
either to secrete
hydrogen ions or to
retain bicarbonate ions
All types produce
hyperchloremic metabolic
acidosis
with a normal anion gap.
4. INTRODUCTION
Lungs and Kidneys are responsible for Normal acid
base balance
Alveolar ventilation removes CO2
Kidneys reabsorb filtered Bicarbonate and excrete
a daily quantity of Hydrogen ion equal to that
produced by the metabolism of dietary proteins.
Hydrogen ions are excreted primarily by
enhancing the excretion of ammonium ions in the
urine
5. 2/4/2015 5
Normal pH 7.35-7.45
Narrow normal range
Compatible with life 6.8 - 8.0
___/______/___/______/___
6.8 7.35 7.45 8.0
Acid Alkaline
6. 2/4/2015 6
Metabolic acidosis
Excessive blood acidity caused by an over-
abundance of acid in the blood or a loss of
bicarbonate from the blood
7.
8. 2/4/2015 8
RESPONSES TO
ACIDOSIS AND ALKALOSIS
Buffer system: temporary solution
Respiratory mechanism provide short time
regulation
Renal mechanism : permanent solution
9. Renal acid-base homeostasis may be
broadly divided into 2 processes
1. Proximal tubular absorption of HCO3
-
(Proximal acidification)
2. Distal Urinary acidification
Reabsorption of remaining HCO3
- that
escapes proximally.
Excretion of fixed acids & Ammonia.
10. Proximal tubule physiology
Multiple factors are of primary importance in
normal bicarbonate reabsorption
The sodium-hydrogen exchanger in the
luminal membrane(NHE3).
The Na-K-ATPase pump
The enzyme carbonic anhydrase II & IV
The electrogenic sodium-bicarbonate
cotransporter(NBC-1).
12. Excretion Of H+ Ions:
Alpha-Intercalated Cells are thought to be the
main cells involved with H+ secretion in the
Collecting Tubules.
This is accomplished by
-H+-K+-ATPase and
-H+-ATPase with
-Cl-/HCO3
- exchanger
- Na+ - K+ ATPase.
16. Acidosis & anion gap
Anion gap=[Na] – [Cl + Hco3]
< 12 = normal or absence of anion gap
as in bicarbonate loss in {diarhea ,RTA,carbonic
anhydrase inhibitor , ureterosigmoidostomy}
>20 =increased anion gap as
in{ lactic acidosis, DKA, inborn errors of
metabolism, uremia, poisoning with
(salicylate,methanol,ethanol)}
17. OUTLINE
Renal tubular acidosis (RTA) is applied to a
group of transport defects in the reabsorption
of bicarbonate (HCO3-), the excretion of
hydrogen ion (H+), or both.
The RTA syndromes are characterized by a
relatively normal GFR and a metabolic
acidosis accompanied by hyperchloremia and
a normal plasma anion gap.
19. TYPES
Distal / type 1 RTA
Proximal / type 2 RTA
Hypoaldosteronism / type 4 RTA
Type 3 / mixed RTA (not in use)
20. Type 1-Distal RTA
Distal RTA (dRTA) is the classical form
of RTA. Inability of the distal tubule to
acidify the urine. Due to impaired
hydrogen ion secretion, increased backleak
of secreted hydrogen ions, or impaired
sodium reabsorption
Urine pH >5.5.
21. DISTAL RTA
Impairment of distal
acidification
Inability to lower urine pH
maximally below 6.0 under
acid load
Patho-mechanism is
inability to secrete H+
adequately (secretory
defect or classic distal RTA)
Gradient defect
Voltage dependent defect
In children mainly a genetic
defect of the H+ pump
23. Distal RTA
Loss of bicarbonate less than type 2 –
metabolic acidosis
Absorption of chloride – hyperchloremia
Loss of potassium – hypokalemia
Decreased excretion of acids – high urinary
ph >5.5
It is often associated with hypercalciuria,
hypocitraturia, nephrocalcinosis, and
osteomalacia
24. The term incomplete distal RTA has been
proposed to describe patients with
nephrolithiasis but without metabolic acidosis.
Hypocitraturia is the usual underlying cause.
26. Non secretory defects causing Distal RTA
Gradient defect: backleak of secreted H+
ions. Ex. Amphotericin B
Voltage dependent defect: impaired distal
sodium reabsorption ex. Obstructive
uropathy, sickle cell disease, CAH, Lithium
and amiloride etc.
This form of distal RTA is associated with
hyperkalemia (Hyperkalemic distal RTA)
27. Distal RTA
A high urinary pH (5.5) is found in the
majority of patients with a secretory dRTA.
Excretion of ammonium is low. This leads to a
positive urine anion gap.
Urine PCO2 does not increase normally after a
bicarbonate load.
Serum potassium is reduced. This is thought to
be due to decreased H+ and H-K-ATPase
activity.
28. RISK FACTORS
Genetics
Autosomal dominant or recessive. May
occur in association with other genetic
diseases (e.g., Ehlers-Danlos syndrome,
hereditary elliptocytosis, or sickle cell
nephropathy). The autosomal recessive
form is associated with sensorineural
deafness.
32. Proximal RTA (Type 2)
Caused by an
impairment of HCO3-
reabsorption in the
proximal tubules
Most cases occur in
the context of
Fanconi’s syndrome
Isolated proximal RTA
is rare.
33. Defect of the proximal tubule in
bicarbonate (HCO3) reabsorption.
Urine pH <5.5
34.
35. 85% reabsorbed 15% reabsorbed
5% excreted
HCO3
HCO3
HCO3
HCO3
100%
Normal renal tubular function
37. Massive loss of bicarbonate – metabolic
acidosis
Absorption of chloride - hyperchloremia
Loss of potassium – hypokalemia
Kidneys tries to compensate for the acidosis –
urine ph is low - < 5.5
FEHCO3 increases(>15%)with administration
of alkali for correction of acidosis
38. Patients with pRTA rarely develop
nephrocalcinosis or nephrolithiasis. This is
thought to be secondary to high citrate
excretion.
In children, the hypocalcemia as well as the
HCMA will lead to growth retardation, rickets,
osteomalacia and an abnormal vitamin D
metabolism. In adults osteopenia is generally
seen.
39. Clinical manifestations -
phosphaturia, glycosuria,
aminoaciduria, uricosuria, and
tubular proteinuria. The
principal feature of Fanconi's
syndrome is bone
demineralization due to
phosphate wasting.
40. -Autosomal dominant form is rare.
-Autosomal recessive form is
associated with ophthalmologic
abnormalities and mental
retardation.
Occurs in Fanconi syndrome, which is
associated with several genetic
diseases
41.
42. growth failure in the 1st year of life
polyuria
dehydration
anorexia
vomiting
constipation
hypotonia
Patients with primary Fanconi
syndrome will have additional
symptoms
Those with systemic diseases will
present with additional signs and
symptoms specific to their underlying
disease
43. Mutation in CTNS gene(17p)--encodes novel
protein:cystinosin(H+ driven cystine transporter)
Defect in metabolism of cystine
Accumulation of cystine crystals in major organs
Kidney, brain ,liver,eye,others
44. Infantile /Nephropathic cystinosis
-1st 2 years of life
-severe tubular dysfuntion
-if no t/t then ESRD till first decade
Adoloscents
-mild
-slower progression to ESRD
Benign adult form with no kidney
involvement
46. Diagnosis:
1.Detection of cystine crystals in cornea
2.Increased leukocyte cystine content
3.Prenatal diag by CVS,amniocentesis
47. Early initiation of therapy is important.
correcting the metabolic abnormalities
associated with Fanconi syndrome or chronic
renal failure.
cysteamine,which binds to cystine and
converts it to cysteine: facilitates lysosomal
transport and decreases tissue cystine.
cysteamine eyedrops is required
growth hormone for growth failure
48. Mutation in OCRL1 of X chromosome(XLR)
Encodes PIBPase in golgi network
Accumulation of PIBP
1.Changes in protein trafficking
2.Defective actin cytosleleton polymerization
3.Altered cell signalling for endocytosis
50. Diagnosis is clinical,molecular testing for
OCLR gene is available.
Prenatal Dx: slit lamp examination of
mother(punctate white opacities)
Treatment is symptomatic
-cataract extraction
-glaucoma control
-physical and speech therapy
-drugs to address behavioral problem
51. Type 3 RTA-Combined
proximal and distal RTA
Extremely rare autosomal recessive syndrome
with features of both type I and type II
(juvenile RTA).
52. RTA Type IV
• Deficiency of aldosterone
• Pseudohypoaldosteronism or end organ target
resistance
54. RTA IV
• End organ target failure or low aldosterone:
– Loss of sodium – hyponatremia
– Retention potassium - hyperkalemia
• Absorption of chloride – hyperchloremia
• Decreased excretion of acids – metabolic
acidosis
• Loss of fluid - dehydration
55. Type IV RTA
ACUTE CHRONIC
OBSTRUTIVE
UROPATHY
•ACUTE PYELONEPHRITIS
•ACUTE URINARY
OBSTRUCTION
ALDOSTERONE
UNRESPONSIVENESS
ACIDOSIS
HYPERKALEMIA
57. Growth failure
Polyuria
Dehydration with salt wasting
Life threatning hyperkalemia
Clinical Features
58. Lab diagnosis of RTA
RTA should be suspected when metabolic
acidosis is accompanied by hyperchloremia
and a normal plasma anion gap (Na+ - [Cl- +
HCO3-] = 8 to 16 mmol/L) in a patient
without evidence of gastrointestinal HCO3-
losses and who is not taking acetazolamide or
ingesting exogenous acid.
59. History collection
Often asymptomatic (particularly
type IV)
Failure to thrive in children
Anorexia, nausea/vomiting
Weakness or polyuria (due to
hypokalemia)
Rickets in children
Osteomalacia in adults
Constipation
Polydipsia
60. confirm the presence of and nature of the
metabolic acidosis.
assess renal function.
rule out other causes of metabolic acidosis,
such as diarrhea ( which is extremely
common) .
identify electrolyte abnormalities (K,Na,Cl)
blood urea nitrogen, calcium, phosphorus,
and creatinine and pH
61. the anion gap should be calculated
using the formula [Na+] - [Cl- + HCO3-].
Values of less than 12 demonstrate the
absence of an anion gap.
True hyperkalemic acidosis is consistent
with type IV RTA, whereas the finding of
normal or low potassium suggests type I
or II .
urine pH may help distinguish distal from
proximal causes. A urine pH of less than
5.5 in the presence of acidosis suggests
proximal RTA, whereas patients with distal
RTA typically have a urine pH of more
than 6.0.
62. The urine anion gap ([Urine Na + Urine
K] - Urine Cl) is sometimes calculated
to confirm the diagnosis of distal RTA.
A positive gap suggests distal RTA. A
negative gap is consistent with
proximal tubule bicarbonate wasting
(or gastrointestinal bicarbonate
wasting).
63. # acid loading test with use of
ammonium chloride with finding of
further fall in serum bicarbonate
without decline of urine PH below 6.0
without development of –ve urine
anion gap is proof of distal RTA
64. # A urinalysis should also be obtained
to determine the presence of
glycosuria, proteinuria, or hematuria
suggesting the possibility of more
global tubular damage or dysfunction
.
# Random or 24-hr urine calcium and
creatinine measurements will
identify hypercalciuria
65. # A renal ultrasound should be
obtained to identify underlying
structural abnormalities such as
obstructive uropathies as well as to
determine the presence of
nephrocalcinosis.
66. Ultrasound examination of a child with distal renal tubular
acidosis demonstrating medullary nephrocalcinosis
67.
68. Fractional excretion of bicarbonate
Urine ph monitoring during IV administration
of sodium bicarbonate.
FEHCO3 is increased in proximal RTA >15%
and is low in other forms of RTA.
70. In humans, the minimum urine pH that can be
achieved is 4.5 to 5.0.
The urine pH must always be evaluated in
conjunction with the urinary NH4+ content to
assess the distal acidification process
adequately .
Urine sodium should be known and urine
should not be infected.
71. Urine AG = Urine (Na + K - Cl).
The urine AG has a negative value in most
patients with a normal AG metabolic acidosis.
Patients with renal failure, type 1 (distal) renal
tubular acidosis (RTA), or hypoaldosteronism
(type 4 RTA) are unable to excrete ammonium
normally. As a result, the urine AG will have a
positive value.
72. Measure of distal acid secretion.
In pRTA, unabsorbed HCO3 reacts with
secreted H+ ions to form H2CO3 that
dissociate slowly to form CO2 in MCT.
Urine-to-blood pCO2 is >20 in pRTA.
Urine-to-blood pCO2 is <20 in distal RTA
reflecting impaired ammonium secretion.
73. Trans-tubular potassium gradient
TTKG is a concentration gradient between the
tubular fluid at the collecting tubule and the plasma.
TTKG = [Urine K ÷ (Urine osmolality / Plasma
osmolality)] ÷ Plasma K.
Normal value is 8 and above.
Value <7 in a hyperkalemic patient indicates
hypoaldosteronism.
74. The proximal tubule reabsorbs most (70-90%)
of the filtered citrate.
Alkalosis enhances citrate excretion, while
acidosis decreases it.
75.
76.
77.
78.
79. correction of the acidemia with oral sodium
bicarbonate, sodium citrate or potassium citrate.
This will reverse bone demineralization
Hypokalemia and urinary stone formation and
nephrocalcinosis can be treated with potassium
citrate tablets
Patients with proximal RTA often require large
quantities of bicarbonate, up to 20 mEq/kg/24 hr
in the form of sodium bicarbonate or sodium
citrate solution
80. The base requirement for distal RTAs is generally in
the range of 2-4 mEq/kg/24 hr.
Patients with Fanconi syndrome generally require
phosphate supplementation .
Patients with distal RTA should be monitored for the
development of hypercalciuria. Symptomatic
hypercalciuria, nephrocalcinosis, or nephrolithiasis
may require thiazide diuretics to decrease urine
calcium excretion.
Patients with type IV RTA may require chronic
treatment for hyperkalemia with sodium-potassium
exchange resin
81. Administration of sufficient bicarbonate to reverse
acidosis stops bone dissolution and the
hypercalciuria.
Proximal RTA is treated with both bicarbonate and
oral phosphate supplements to heal bone disease.
Vitamin D is needed to offset the secondary
hyperparathyroidism that complicates oral
phosphate therapy
The mainstay of therapy in all forms of RTA is
bicarbonate replacement .
85. RenalTubular Acidosis Syndromes, Department of Internal Medicine,TexasTech
University Health Sciences Center, South Med J. 2000;93(11)
Cogan MG, Morris RC Jr: Renal tubular acidosis.Textbook of Nephrology. Massry SG,
Glassock RJ (eds). Baltimore,Williams &Wilkins Co,Vol 1, 2nd Ed, 1988, p 382
SlyWS,Whythe MP, SundaramV, et al: Carbonic anhydrase II deficiency in 12 families
with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis
and cerebral calcification. N Engl J Med 1985; 313:139-145
Albright F, Burnett CH, ParsonW: Osteomalacia and late rickets. the various etiologies
met in the United States with emphasis on that resulting from a specific form of renal
acidosis, the therapeutic indications for each etiological subgroup, and the
relationship between osteomalacia and Milkman's syndrome. Medicine 1946; 25:399-
479
Halperin ML, Goldstein MB, Haig AJ, et al: Studies on the pathogenesis of type 1
(distal) renal tubular acidosis as revealed by the urinary PCO 2 tensions. J Clin Invest
1974; 53:669-677
DuBoseTD Jr, Caflisch CR:Validation of the difference in urine and blood CO 2 tension
during bicarbonate loading as an index of distal nephron acidification in experimental
models of distal renal tubular acidosis. J Clin Invest 1985; 75:1116-1126
CavistonTL, CampbellWG,Wingo CS, et al: Molecular identification of the renal H+,
K+-ATPases. Semin Nephrol 1999; 19:431-437
86. Sabatini S, Kurtzman NA: Enzyme activity in obstructive uropathy: basis for salt wastage
and the acidification defect. Kidney Int 1990; 37:79-84
Dafnis E, Sabatini S, Kurtzman NA: Effect of lithium and amiloride on collecting tubule
transport enzymes. J Pharmacol ExpTher 1992; 261:701-706
Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies.Nephrol.
Dial.Transplant. (2012) 27 (12): 4273-4287.
And
NelsonTextbook of Pediatrics 19th edition
IAPTextbook of Pediatrics 5th edition
Pediatric Nephrology by RN Srivastava,A Bagga 5th edition
Dr.Tai Al Akawy